Associated Papers
Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.
Suzuki T et al.
Journal of the American Heart Association, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.
Micolonghi C et al.
International Journal of Molecular Sciences, 2024
Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.
Noureddine M et al.
Frontiers in Physiology, 2023
Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.
Chen J et al.
Orphanet Journal of Rare Diseases, 2022
Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.
Khan RS et al.
Journal of the American Heart Association, 2022
Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.
Ware SM et al.
Journal of the American Heart Association, 2021
Deficiency in nebulin repeats of sarcomeric nebulette is detrimental for cardiomyocyte tolerance to exercise and biomechanical stress.
Vejandla RM et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2021
Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.
Sahlin E et al.
Plos One, 2019
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy.
Nouhravesh N et al.
Molecular Genetics & Genomic Medicine, 2016
Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases.
Tšuiko O et al.
Human Reproduction (oxford, England), 2016
Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies.
Perrot A et al.
Archives of Medical Science : Ams, 2016
Nebulette knockout mice have normal cardiac function, but show Z-line widening and up-regulation of cardiac stress markers.
Mastrototaro G et al.
Cardiovascular Research, 2015
Roles of Nebulin Family Members in the Heart.
Bang ML et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2015
Integrative data mining highlights candidate genes for monogenic myopathies.
Abath Neto O et al.
Plos One, 2014
Altered regional cardiac wall mechanics are associated with differential cardiomyocyte calcium handling due to nebulette mutations in preclinical inherited dilated cardiomyopathy.
Maiellaro-Rafferty K et al.
Journal of Molecular and Cellular Cardiology, 2013
Genetics of sudden cardiac death syndromes.
Chopra N et al.
Current Opinion in Cardiology, 2011
Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis.
Purevjav E et al.
Journal of the American College of Cardiology, 2010
Nebulette mutations in cardiac remodeling: big effects from a small mechanosensor.
Ram R et al.
Journal of the American College of Cardiology, 2010